KEGG   Homo sapiens (human): 51119
Entry
51119             CDS       T01001                                 
Symbol
SBDS, CGI-97, SDO1, SDS, SWDS
Name
(RefSeq) SBDS ribosome maturation factor
  KO
K14574  ribosome maturation protein SDO1
Organism
hsa  Homo sapiens (human)
Pathway
hsa03008  Ribosome biogenesis in eukaryotes
Disease
H00439  Shwachman-Diamond syndrome
H01132  Aplastic anemia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   03008 Ribosome biogenesis in eukaryotes
    51119 (SBDS)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03009 Ribosome biogenesis [BR:hsa03009]
    51119 (SBDS)
Ribosome biogenesis [BR:hsa03009]
 Eukaryotic type
  Pre-60S particles
   Export and cytoplasmic maturation factors
    51119 (SBDS)
SSDB
Motif
Pfam: SBDS SBDS_domain_II SBDS_C 2-Hacid_dh_C
Other DBs
NCBI-GeneID: 51119
NCBI-ProteinID: NP_057122
OMIM: 607444
HGNC: 19440
Ensembl: ENSG00000126524
UniProt: Q9Y3A5 A0A0S2Z5I7
Structure
Position
7:complement(66987680..66995586)
AA seq 250 aa
MSIFTPTNQIRLTNVAVVRMKRAGKRFEIACYKNKVVGWRSGVEKDLDEVLQTHSVFVNV
SKGQVAKKEDLISAFGTDDQTEICKQILTKGEVQVSDKERHTQLEQMFRDIATIVADKCV
NPETKRPYTVILIERAMKDIHYSVKTNKSTKQQALEVIKQLKEKMKIERAHMRLRFILPV
NEGKKLKEKLKPLIKVIESEDYGQQLEIVCLIDPGCFREIDELIKKETKGKGSLEVLNLK
DVEEGDEKFE
NT seq 753 nt   +upstreamnt  +downstreamnt
atgtcgatcttcacccccaccaaccagatccgcctaaccaatgtggccgtggtacggatg
aagcgtgccgggaagcgcttcgaaatcgcctgctacaaaaacaaggtcgtcggctggcgg
agcggcgtggaaaaagacctcgatgaagttctgcagacccactcagtgtttgtaaatgtt
tctaaaggtcaggttgccaaaaaggaagatctcatcagtgcgtttggaacagatgaccaa
actgaaatctgtaagcagattttgactaaaggagaagttcaagtatcagataaagaaaga
cacacacaactggagcagatgtttagggacattgcaactattgtggcagacaaatgtgtg
aatcctgaaacaaagagaccatacaccgtgatccttattgagagagccatgaaggacatc
cactattcggtgaaaaccaacaagagtacaaaacagcaggctttggaagtgataaagcag
ttaaaagagaaaatgaagatagaacgtgctcacatgaggcttcggttcatccttccagtc
aatgaaggcaagaagctgaaagaaaagctcaagccactgatcaaggtcatagaaagtgaa
gattatggccaacagttagaaatcgtatgtctgattgacccgggctgcttccgagaaatt
gatgagctaataaaaaaggaaactaaaggcaaaggttctttggaagtactcaatctgaaa
gatgtagaagaaggagatgagaaatttgaatga

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